MITOMAP References for Variant G-A at 8969

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Index PMID Date Reference
1 25037980 2014 Burrage, L. C., Tang, S., Wang, J., Donti, T. R., Walkiewicz, M., Luchak, J. M., Chen, L. C., Schmitt, E. S., Niu, Z., Erana, R., Hunter, J. V., Graham, B. H., Wong, L. J., Scaglia, F. (2014) Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene Molecular Genetics and Metabolism . 113 (3): 207-212 .
2 27812026 2016 Wen, S., Niedzwiecka, K., Zhao, W., Xu, S., Liang, S., Zhu, X., Xie, H., Tribouillard-Tanvier, D., Giraud, M. F., Zeng, C., Dautant, A., Kucharczyk, R., Liu, Z., di Rago, J. P., Chen, H. (2016) Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy Scientific Reports . 6 (): 36313 .
3 27450679 2017 Sallevelt, S. C., de Die-Smulders, C. E., Hendrickx, A. T., Hellebrekers, D. M., de Coo, I. F., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R., Smeets, H. J. (2017) De novo mtDNA point mutations are common and have a low recurrence risk Journal of Medical Genetics . 54 (2): 73-83 .
4 29350304 2018 Isohanni, P., Carroll, C. J., Jackson, C. B., Pohjanpelto, M., Lonnqvist, T., Suomalainen, A. (2018) Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth Neurogenetics . 19 (1): 49-53 .
5 30763462 2019 Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 .
6 34732400 2021 Schon, K. R., Horvath, R., Wei, W., Calabrese, C., Tucci, A., Ibanez, K., Ratnaike, T., Pitceathly, R. D. S., Bugiardini, E., Quinlivan, R., Hanna, M. G., Clement, E., Ashton, E., Sayer, J. A., Brennan, P., Josifova, D., Izatt, L., Fratter, C., Nesbitt, V., Barrett, T., McMullen, D. J., Smith, A., Deshpande, C., Smithson, S. F., Festenstein, R., Canham, N., Caulfield, M., Houlden, H., Rahman, S., Chinnery, P. F., Genomics England Research Consortium (2021) Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study BMJ: British Medical Journal . 375 (): e066288 .